1010668008: syndroom van Stickler type 1 (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of vitreous body\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Congenital structural abnormality of orbit proper (disorder)\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Retina finding (finding)\Retinal disorder\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Retina finding (finding)\Retinal disorder\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Vitreous cavity finding\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Vitreous cavity finding\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Orbit finding\Disorder of orbit proper (disorder)\Disorder of vitreous body\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Orbit finding\Disorder of orbit proper (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Finding of head region\Finding of eye region\Orbit finding\Disorder of orbit proper (disorder)\Congenital structural abnormality of orbit proper (disorder)\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of vitreous body\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Congenital structural abnormality of orbit proper (disorder)\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of vitreous body\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of vitreous body\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital structural abnormality of orbit proper (disorder)\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1

\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of vitreous body\...

\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1

\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Stickler syndrome\Stickler syndrome type 1
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Osteoarthritis (disorder)\Stickler syndrome\Stickler syndrome type 1
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint\Stickler syndrome\Stickler syndrome type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Stickler syndrome\Stickler syndrome type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Osteoarthritis (disorder)\Stickler syndrome\Stickler syndrome type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Stickler syndrome\Stickler syndrome type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Osteoarthritis (disorder)\Stickler syndrome\Stickler syndrome type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint\Stickler syndrome\Stickler syndrome type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Stickler syndrome\Stickler syndrome type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Stickler syndrome\Stickler syndrome type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Stickler syndrome\Stickler syndrome type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Stickler syndrome\Stickler syndrome type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Stickler syndrome\Stickler syndrome type 1

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of joint region\Arthropathy (disorder)\Osteoarthritis (disorder)\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint\Stickler syndrome\Stickler syndrome type 1
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Stickler syndrome\Stickler syndrome type 1
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Stickler syndrome\Stickler syndrome type 1
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Stickler syndrome type 1
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital connective tissue disorder\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital structural abnormality of orbit proper (disorder)\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital structural abnormality of orbit proper (disorder)\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Stickler syndrome\Stickler syndrome type 1
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Osteoarthritis (disorder)\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of vitreous body\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Congenital structural abnormality of orbit proper (disorder)\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital structural abnormality of orbit proper (disorder)\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Osteoarthritis (disorder)\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Osteoarthritis (disorder)\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of vitreous body\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Congenital structural abnormality of orbit proper (disorder)\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Disorder of vitreous cavity (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of vitreous body\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of vitreous body\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital structural abnormality of orbit proper (disorder)\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of connective tissue (disorder)\Disorder of vitreous body\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of connective tissue (disorder)\Disorder of vitreous body\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of vitreous body\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of vitreous body\Hereditary vitreoretinopathy\Stickler syndrome\Stickler syndrome type 1
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Stickler syndrome\Stickler syndrome type 1
\Disease\Developmental disorder\Developmental hereditary disorder\Stickler syndrome\Stickler syndrome type 1
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Stickler syndrome\Stickler syndrome type 1
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Stickler syndrome\Stickler syndrome type 1
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital structural abnormality of orbit proper (disorder)\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital structural abnormality of orbit proper (disorder)\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital malformation of vitreous humour\Stickler syndrome\Stickler syndrome type 1
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Stickler syndrome\Stickler syndrome type 1
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Stickler syndrome\Stickler syndrome type 1
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Stickler syndrome\Stickler syndrome type 1
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Stickler syndrome\Stickler syndrome type 1

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4213458017 Stickler syndrome type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4213459013 Stickler syndrome type 1 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

12318531000146116 syndroom van Stickler type 1 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12318541000146112 Stickler-syndroom type 1 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12318551000146110 syndroom van Stickler type 1 (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Stickler syndrome type 1	Is a	Stickler syndrome	true	Inferred relationship	Some
Stickler syndrome type 1	Finding site	Joint structure	true	Inferred relationship	Some	1
Stickler syndrome type 1	Occurrence	Congenital	true	Inferred relationship	Some	1
Stickler syndrome type 1	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Stickler syndrome type 1	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Stickler syndrome type 1	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Stickler syndrome type 1	Finding site	Bone structure	true	Inferred relationship	Some	2
Stickler syndrome type 1	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Stickler syndrome type 1	Occurrence	Congenital	true	Inferred relationship	Some	2
Stickler syndrome type 1	Occurrence	Congenital	true	Inferred relationship	Some	3
Stickler syndrome type 1	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Stickler syndrome type 1	Finding site	Vitreous body structure	true	Inferred relationship	Some	3
Stickler syndrome type 1	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Stickler syndrome type 1	Finding site	Retinal structure	true	Inferred relationship	Some	4
Stickler syndrome type 1	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	4
Stickler syndrome type 1	Occurrence	Congenital	true	Inferred relationship	Some	4
Stickler syndrome type 1	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Stickler syndrome type 1	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets